Biology:SLC45A1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
SLC45A1 is a member of the SLC45 family of solute carriers. Analysis of the protein function in a recombinant yeast expression assay show that it can: (i) transport a disaccharide, such as glucose and sucrose (ii) perform secondary active transport in a proton-dependent manner.[1]
It is associated with sugar transport in the brain, and rare mutations in the gene are associated with intellectual disability and epilepsy.[2] analogous to the effect of mutation of the cerebral glucose transporter GLUT1(SLC2A1).
References
- ↑ "Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae". The Biochemical Journal 464 (2): 193–201. December 2014. doi:10.1042/BJ20140572. PMID 25164149.
- ↑ "Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy". American Journal of Human Genetics 100 (5): 824–830. May 2017. doi:10.1016/j.ajhg.2017.03.009. PMID 28434495.
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